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Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Gene Section Mini Review SMAP1 (stromal membrane-associated protein 1) Kenji Tanabe, Shunsuke Kon, Masanobu Satake Department of Molecular Immunology, Institute of Development, Aging, and Cancer, Tohoku University, Sendai, Japan (KT, SK, MS) Published in Atlas Database: March 2008 Online updated version: http://AtlasGeneticsOncology.org/Genes/SMAP1ID42974ch6q13.html DOI: 10.4267/2042/44388 This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. © 2009 Atlas of Genetics and Cytogenetics in Oncology and Haematology isoform A transcript is constituted by 467, and the other from an isoform B is by 440 aa residues. A protein diagram shown above represents an isoform B type. Identity Other names: FLJ13159; FLJ42245; SMAP-1 HGNC (Hugo): SMAP1 Location: 6q13 Local order: Between D6S455 and D6S1673. Expression Both isoform transcripts are detected in various human tissues. Expression appears to be almost ubiquitous. DNA/RNA Localisation Description SMAP1 protein is detected in the cytoplasm of cells, and appears to be highly concentrated near the plasma membrane. The gene spans an approximately 190 kb region, and is composed of 11 exons. Function Transcription SMAP1 functions as a GTPase-activating protein for an Arf6 GTPase. Arf6 is a Ras-related, small GTPase, and regulates clathrin-dependent and -independent endocytosis as well as actin dynamics. SMAP1 is specifically involved in the Arf6-regulated, clathrindependent endocytosis. This is achieved by direct interaction of SMAP1 with clathrin heavy chain. There is only one transcription initiation site. However, due to alternative splicing, generated are two types of transcripts, isoforms A and B. The length of each transcript is either 3344 (isoform A) or 3263 nt (isoform B). The isoform A retains, and the isoform B lacks in-flame exon 5, respectively. Homology Protein As a highly homologous gene to SMAP1, SMAP2 is identified on 1p34.1-35.3. SMAP1 and SMAP2 constitute a small subfamily in the ArfGAP family. SMAP2 protein is specifically involved in the early endosomes to trans-Golgi network transport. Note SMAP1 is a member in the ArfGAP protein family. Implicated in GAP, an ArfGAP domain; K-rich, a lysine-rich region; CHC, a clathrin heavy chain-binding motif; CALM, a clathrin assembly protein (CALM)-binding domain. t(6;11)(q13;q23) in acute leukemia Note Two cases have been reported so far. Description There are two isoform proteins. One translated from an Atlas Genet Cytogenet Oncol Haematol. 2009; 13(1) 68 SMAP1 (stromal membrane-associated protein 1) Tanabe K, et al. Schematic illustration of chimeric MLL-SMAP1 protein. The authentic MLL and SMAP1 proteins are also shown. AT hook, an AT-hook domain; NLS, a nuclear localization signal; MT, a methyltransferase domain; PHD, a plant homeodomain zinc finger; BROMO, a bromo domain; SET, a su(var)3-9, enhancer-of-zeste, trithorax domain. GAP, an ArfGAP domain; K-rich, a lysine-rich region; CHC, a clathrin heavy chain-binding motif; CALM, a clathrin assembly protein (CALM)-binding domain. Meyer C, Schneider B, Reichel M, Angermueller S, Strehl S, Schnittger S, Schoch C, Jansen MW, van Dongen JJ, Pieters R, Haas OA, Dingermann T, Klingebiel T, Marschalek R. Diagnostic tool for the identification of MLL rearrangements including unknown partner genes. Proc Natl Acad Sci U S A. 2005 Jan 11;102(2):449-54 Disease One case is from an M4 subtype of acute myeloid leukemia. A type of leukemia is not described for the other case. Hybrid/Mutated gene One leukemia patient possessed the 46, XX, t(6;11)(q13;q23) karyotype. In this patient, reciprocal translocation occured between intron 11 of MLL gene and intron 6 of SMAP1 gene. The chimeric 5'-MLLSMAP1-3' transcript encodes a chimeric MLL-SMAP1 protein. Abnormal protein MLL-SMAP1 Tanabe K, Torii T, Natsume W, Braesch-Andersen S, Watanabe T, Satake M. A novel GTPase-activating protein for ARF6 directly interacts with clathrin and regulates clathrindependent endocytosis. Mol Biol Cell. 2005 Apr;16(4):1617-28 Natsume W, Tanabe K, Kon S, Yoshida N, Watanabe T, Torii T, Satake M. SMAP2, a novel ARF GTPase-activating protein, interacts with clathrin and clathrin assembly protein and functions on the AP-1-positive early endosome/trans-Golgi network. Mol Biol Cell. 2006 Jun;17(6):2592-603 Tanabe K, Kon S, Natsume W, Torii T, Watanabe T, Satake M. Involvement of a novel ADP-ribosylation factor GTPaseactivating protein, SMAP, in membrane trafficking: implications in cancer cell biology. Cancer Sci. 2006 Sep;97(9):801-6 References Harrison CJ, Cuneo A, Clark R, Johansson B, LafagePochitaloff M, Mugneret F, Moorman AV, Secker-Walker LM. Ten novel 11q23 chromosomal partner sites. European 11q23 Workshop participants. Leukemia. 1998 May;12(5):811-22 This article should be referenced as such: Tanabe K, Kon S, Satake M. SMAP1 (stromal membraneassociated protein 1). Atlas Genet Cytogenet Oncol Haematol. 2009; 13(1):68-69. Marcos I, Borrego S, Rodríguez de Córdoba S, Galán JJ, Antiñolo G. Cloning, characterization and chromosome mapping of the human SMAP1 gene. Gene. 2002 Jun 12;292(1-2):167-71 Atlas Genet Cytogenet Oncol Haematol. 2009; 13(1) 69